Publications by authors named "Albena Todorova"

37Publications

Human cytomegalovirus DNA detection in a recurrent glioblastoma multiforme tumour, but not in whole blood: a case report and discussion about the HCMV latency and therapy perspectives.

J Neurovirol 2020 Dec 3;26(6):984-987. Epub 2020 Sep 3.

Department of Medical Chemistry and Biochemistry, Medical Faculty, Medical University - Sofia, Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s13365-020-00901-9DOI Listing
December 2020

Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation.

J Cardiovasc Med (Hagerstown) 2020 Sep;21(9):688-695

Clinic of Neurology, Aleksandrovska University Hospital, Medical University Sofia.

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http://dx.doi.org/10.2459/JCM.0000000000001036DOI Listing
September 2020

Transthyretin amyloidosis: Testing strategies and model for center of excellence support.

Clin Chim Acta 2020 Oct 18;509:228-234. Epub 2020 Jun 18.

Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University - Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.cca.2020.06.029DOI Listing
October 2020

Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.

J Gastrointestin Liver Dis 2019 Dec 9;28(4):421-426. Epub 2019 Dec 9.

Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.15403/jgld-362DOI Listing
December 2019

Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.

J Gastrointestin Liver Dis 2019 Sep 1;28(3):359-361. Epub 2019 Sep 1.

Medical University of Sofia, Bulgaria; Clinic of Nervous Diseases, Alexandrovska University Hospital, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.15403/JGLD-422DOI Listing
September 2019

Founder effect of the Glu89Gln mutation in the Bulgarian population.

Amyloid 2019 Dec 29;26(4):181-185. Epub 2019 Jul 29.

Genetic Medico-Diagnostic Laboratory Genica , Sofia , Bulgaria.

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http://dx.doi.org/10.1080/13506129.2019.1634539DOI Listing
December 2019

Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.

Gene 2019 Jul 11;705:16-21. Epub 2019 Apr 11.

Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; IMDL Genome Center "Bulgaria", Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.gene.2019.04.030DOI Listing
July 2019

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Am J Med Genet A 2019 06 13;179(6):1020-1024. Epub 2019 Mar 13.

Department of Pediatrics and Medical Genetics, Medical University, Plovdiv, Bulgaria.

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http://dx.doi.org/10.1002/ajmg.a.61110DOI Listing
June 2019

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Neuromuscul Disord 2018 08 17;28(8):625-632. Epub 2018 May 17.

Department of Neurology, University Hospital "Alexandrovska", Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2018.05.005DOI Listing
August 2018

Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.

Int J Neurosci 2018 Feb 13;128(2):117-124. Epub 2017 Sep 13.

a Department of Medical Chemistry and Biochemistry , Medical University Sofia , Sofia , Bulgaria.

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http://dx.doi.org/10.1080/00207454.2017.1372436DOI Listing
February 2018

Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.

J Pediatr 2016 12 15;179:263-265. Epub 2016 Sep 15.

Department of Endocrinology and Genetics, University Children's Hospital, Medical University Sofia, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.jpeds.2016.08.065DOI Listing
December 2016

Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.

Neuromuscul Disord 2016 10 11;26(10):675-680. Epub 2016 Aug 11.

Department of Medical Chemistry and Biochemistry, Medical University Sofia, 2 Zdrave Str., Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory "Genica", 90 Tsar Asen Str., Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2016.08.001DOI Listing
October 2016

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

Neurol Sci 2015 Dec 1;36(12):2209-12. Epub 2015 Aug 1.

Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s10072-015-2338-3DOI Listing
December 2015

Molecular and clinico-histological data in aggressive prostate cancer patients from Bulgaria.

J BUON 2015 Mar-Apr;20(2):498-504

Department of Medical Chemistry and Biochemistry, Medical University Sofia, Bulgaria.

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July 2015

Molecular and Clinicopathological Aspects of Prostate Cancer in Bulgarian Probands.

Pathol Oncol Res 2015 Sep 10;21(4):969-76. Epub 2015 Mar 10.

Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria,

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http://dx.doi.org/10.1007/s12253-015-9915-xDOI Listing
September 2015

Case 2: A 20-month-old boy with asymmetric growth of the legs.

Paediatr Child Health 2014 Mar;19(3):123-5

Department of Medical Chemistry and Biochemistry Medical University, Sofia, Bulgaria.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959968PMC
http://dx.doi.org/10.1093/pch/19.3.123DOI Listing
March 2014

One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth.

J Child Neurol 2014 Jun 28;29(6):799-802. Epub 2013 Feb 28.

Department of Medical Chemistry and Biochemistry, Sofia Medical University Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.

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http://dx.doi.org/10.1177/0883073813477203DOI Listing
June 2014

Different methylation patterns in BWS/SRS cases clarified by MS-MLPA.

Mol Biol Rep 2013 Jan 20;40(1):263-8. Epub 2012 Oct 20.

Department of Medical Chemistry and Biochemistry, Medical University Sofia, 2 "Zdrave" Street, 1431 Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s11033-012-2057-2DOI Listing
January 2013

A novel PCDH19 mutation inherited from an unaffected mother.

Pediatr Neurol 2012 Jun;46(6):397-400

Clinic of Child Neurology, St Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.03.004DOI Listing
June 2012

Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration.

Epileptic Disord 2012 Jun;14(2):181-6

Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.

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http://dx.doi.org/10.1684/epd.2012.0508DOI Listing
June 2012

Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.

Mutat Res 2012 Jun 16;734(1-2):69-72. Epub 2012 Apr 16.

Department of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.mrfmmm.2012.04.001DOI Listing
June 2012

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.

Neurosci Lett 2011 Apr 15;494(2):180-3. Epub 2011 Mar 15.

National Genetic Laboratory, Sofia Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.neulet.2011.03.008DOI Listing
April 2011

A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

Mol Biotechnol 2010 Jun;45(2):150-4

Department of Medical Chemistry and Biochemistry, Medical University Sofia, 2 Zdrave Street, 1431 Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s12033-010-9260-yDOI Listing
June 2010

Fragile X mosaic male full mutation/normal allele detected by PCR/MS-MLPA.

BMJ Case Rep 2009 18;2009. Epub 2009 May 18.

Medical University, Department of Chemistry and Biochemistry, 2 Zdrave Street, Sofia 1431, Bulgaria.

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http://dx.doi.org/10.1136/bcr.06.2008.0139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3028058PMC
November 2011

MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.

Neuromuscul Disord 2008 Aug 23;18(8):667-70. Epub 2008 Jul 23.

Department of Chemistry and Biochemistry, Medical Faculty, Sofia Medical University, 2 Zdrave str., Sofia 1431, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2008.06.369DOI Listing
August 2008

A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss.

Hum Mol Genet 2007 Mar 5;16(5):573-8. Epub 2007 Mar 5.

Institut für Humangenetik, Westfalian Wilhelms-University of Münster and University Clinic Münster, Münster, Germany.

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http://academic.oup.com/hmg/article/16/5/573/709076/A-common
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http://dx.doi.org/10.1093/hmg/ddm017DOI Listing
March 2007

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Neurogenetics 2007 Aug 23;8(3):225-9. Epub 2007 Feb 23.

Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia Medical University, 2 Zdrave Str., 1431 Sofia, Bulgaria.

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http://search.proquest.com/openview/bcd09b51a392098ea212a120
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http://link.springer.com/content/pdf/10.1007/s10048-007-0083
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http://link.springer.com/10.1007/s10048-007-0083-3
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http://dx.doi.org/10.1007/s10048-007-0083-3DOI Listing
August 2007

Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation.

Am J Med Genet A 2003 Jul;120A(1):5-7

Laboratory of Molecular Pathology, Hospital of Obstetrics and Gynaecology, Medical University, 2 Zdrave Street, Sofia 1431, Bulgaria.

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http://dx.doi.org/10.1002/ajmg.a.10264DOI Listing
July 2003